Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs751163782
rs751163782
5 0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
dbSNP: rs1327062642
rs1327062642
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057518922
rs1057518922
4 0.925 0.200 1 68431281 splice donor variant C/A;T snv 1.6E-05 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs35135520
rs35135520
12 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
dbSNP: rs397515508
rs397515508
ND1 ; ND2
4 0.925 0.160 MT 3700 missense variant G/A snv 0.700 0
dbSNP: rs552184470
rs552184470
2 1.000 0.080 17 8003171 inframe deletion TCTGCT/- delins 1.8E-03 1.9E-03 0.700 0
dbSNP: rs775796581
rs775796581
5 0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 0.700 0
dbSNP: rs776019250
rs776019250
12 0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 0.700 0